Three Siblings Deal with VHL

When Melissa’s right hand and arm started to tingle in the spring of 1992, doctors thought she was suffering from carpal tunnel syndrome and prescribed three months of physical therapy. When therapy had no effect, the doctors ordered an MRI of the spine looking for a slipped disc. Instead, four brain tumors were discovered in the cerebellum, brain stem and cervical spine. Surgery was performed in September 1992. In November laser surgery was performed to remove a retinal angioma, and in January 1993 she underwent surgery to remove a tumor of the thoracic spine. At age 36, she still aches. Her nerves tingle through most of her body, and she has continuous head pressure. Cysts on her kidneys, liver¹ and pancreas are also being monitored. Through the use of traditional Chinese therapies the pressure in her head and the effects of the tingling are minimized.

Will, age 38, was diagnosed with retinal angiomas at age 24. Since then he has had periodic treatments for retinal angiomas ranging from cryosurgery to laser surgery. It was not until the discovery of Melissa’s brain tumors that he inquired about screening of other parts of his body. Other than the eye lesions, he had experienced no other medical problems. The results of the tests did not bring Will the news he wanted to hear. He was told that he had three tumors on the cerebellum, brain stem and cervical spine. Even though he had no symptoms, one tumor was dangerously large. Surgery to remove the tumors in March 1993 was successful, but Will had to undergo extensive physical therapy to be able to walk again, and still has some limitations.

Alice, age 41, and the oldest of the three siblings, always thought she had escaped VHL. Twelve years ago during her annual VHL screening, cysts on her pancreas and kidneys were discovered, but no other symptoms. In 1986 she experienced a sudden hearing loss in her left ear. "It wasn’t gradual. One day I could hear, the next day I woke up and I had partial hearing loss in my left ear." The sensation was very similar to fullness in your ears after swimming or flying. This sensation and the constant ringing and pressure have never gone away. Alice, as so many with VHL, searched for an answer and was finally treated for Meniere’s Disease. Meniere’s, a disease of the inner ear causing episodes of vertigo, a feeling of fullness or pressure in the ear, and fluctuating hearing loss, actually mimics the same symptoms of endolymphatic sac tumors (ELST) found in people with VHL.

Through the VHL Family Alliance, Alice contacted Dr. Zbar and is now part of the research at the National Institutes of Health (NIH). In August 1995, Alice made her first trip to the NIH and found that she does carry the VHL gene. Her hearing loss was the result of an ELST that had been visible on the films she had brought with her since 1987. In addition, she was also told she had an ELST on her right side that was larger than her left. Alice was in shock, because her hearing on the right side was not impaired, and she had no fullness, pressure or ringing on that side. She was also told she had a solid tumor on her right and left kidney, consistent with renal cell cancer that had been visible on her films since 1994. Again she was shocked. She had just had her annual screening for VHL in February and solid kidney tumors were not discussed.

At this time there is no known treatment to preserve her hearing, but research at the NIH continues. Until then, Alice has become an aggressive student of American Sign Language and, like Melissa, has found some relief of her symptoms through acupuncture and naturopathic medicine.

VHL is an autosomal dominant gene, meaning that every male or female child of a person with VHL has a 50% chance of also inheriting the gene and the potential for developing symptoms. Melissa, Will and Alice inherited this altered gene from their father. William (Bill) died in 1981 at the age of 53 following an 18 year battle with VHL.

He was diagnosed in 1963 with tumors of the cerebellum. In 1969 he had recurrent symptoms that resulted in exploratory surgery. In 1977, symptoms again recurred resulting in a shunt to drain fluid from the brain followed by cobalt therapy. Even though he had problems with his vision and retinal angiomas were suspected, he was never screened for them. He had various neurological symptoms consistent with possible spinal lesions, yet doctors never recommended a full spinal scan. At his death in 1981 Bill’s body was donated for VHL research. The autopsy showed tumors of the sagittal sinus, cerebellum, brain stem, cervical spine, thoracic spine, as well as tumors found in the triceps muscle.

"My father was one of the first documented cases of VHL in the Delaware area," Will said. "At the time of his diagnosis he was told he was maybe one of fifty affected by VHL in the world."

"Most doctors really were not informed about our father’s disease," said Melissa. "In fact if I had known in 1992 what I know today about VHL I would have associated my symptoms with VHL right away rather than waiting six months and going through useless physical therapy for carpal tunnel syndrome."

"Most VHL patients have had the same agonizing frustration of going from one place to another before receiving proper diagnosis," said Alice. "Because of the VHL Family Alliance’s network and education, we now have peace of mind and know others that care about us and understand our concerns."

Melissa and Will and Will’s wife Kelly own and operate businesses in Newark and Wilmington, Delaware. Melissa chairs the Delaware chapter and is a board member of the VHL Family Alliance. She also serves on the board of the local American Cancer Society chapter. Will is actively involved in the Delaware State Council for Persons with Disabilities. Alice is employed by a bank in Seattle, Washington. She chairs the VHL Family Alliance chapter in Washington state, and serves on the American Cancer Society Public Issues committee.

With assistance from their physicians, Melissa, Will and Alice hope to educate both the general public and the medical community on von Hippel-Lindau disease. "We just take one day at a time," they agree.

1. Cysts on the liver are a rare occurrence in VHL and usually do not cause problems.

We are grateful to Nancy Turner, staff writer of the Newark Post, for her assistance in compiling this article.

As published in the VHL Family Forum, 4:3, September 1996. For permission to reprint, please contact the VHL Family Alliance, editor@vhl.org. Further information is available from the VHL Family Alliance, info@vhl.org.

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